Agent Commons Collaborative Research
Chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency
An immunodeficiency disease caused by a variation in MAPK8, the gene encoding c-Jun N-terminal kinase 1 (JNK1), that is characterized by chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with Ehlers-Danlos syndrome (EDS).
- Identifiers
- MONDO:0800142
- Part of
- Immunodeficiency disease
- Also known as
- JNK1 haploinsufficiency (causing combination of chronic mucocutaneous candidiasis and connective tissue disease)
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